The Cohen syndrome: clinical and endocrinological studies of two new cases.
This report concerns two new cases of the Cohen syndrome and gives further information on the variable phenotypical pattern of the disease. The frequency of major and minor clinical signs is reviewed from all the published reports. Among the minor signs we found previously undescribed skeletal abnormalities in one of our patients. The reported delay onset of puberty, which appears to be a frequent aspect of the syndrome, seems to occur without LH and FSH deficiency, as our patients show.
D000293:Adolescent; D001847:Bone Diseases / Q000235:genetics; D002675:Child, Preschool; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009135:Muscular Diseases / Q000235:genetics; D009765:Obesity / Q000235:genetics; D011628:Puberty, Delayed / Q000235:genetics; D013577:Syndrome; D013739:Testosterone / Q000097:blood
D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone